Pediatric Otolaryngologists' Use of Genetic Testing

Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child

“…The workup for a deaf infant can include a number of medical tests in order to establish the etiology of the deafness 22. However, in the absence of syndromic findings, GJB2 testing currently is recommended as the first test 14, followed by GJB6 deletion testing for negative or heterozygous GJB2 results23, and there is evidence that this genetic testing has become an important tool for non-genetics health providers, such as pediatric otolaryngologists 22, to explain why infants identified through the newborn hearing screening process are deaf or hard of hearing.…”

“…However, in the absence of syndromic findings, GJB2 testing currently is recommended as the first test 14, followed by GJB6 deletion testing for negative or heterozygous GJB2 results23, and there is evidence that this genetic testing has become an important tool for non-genetics health providers, such as pediatric otolaryngologists 22, to explain why infants identified through the newborn hearing screening process are deaf or hard of hearing. A potential benefit of GJB2/GJB6 testing is that in some cases, it will explain why a child is deaf and eliminate the need for additional medical evaluation 24.…”

“…Because inconclusive and negative genetic test results are difficult to explain and understand 26, and because the etiology of the child’s deafness is still unknown, additional genetic and medical evaluation may be warranted. Although there are considerable benefits to GJB2/GJB6 (and other DNA-based) testing, recent empirical data suggests that non-genetics providers, such as pediatric otolaryngologists, do not have an adequate understanding of genetic testing and counseling of test results 22. A significant issue that may surface in relation to GJB2/GJB6 testing by non-genetics health providers is the importance of referral for genetics evaluation and genetic counseling for both positive and negative/inconclusive results, particularly in light of a recent report that both deaf and hearing consumers would prefer to discuss genetic information with a professional trained in genetics such as a geneticist or genetic counselor 25.…”

Evidence based curriculum design—Use of a surgical database to identify non-perceived needs in educating otolaryngologists on pediatric conditions

“…Osguthorpe wrote on allergy and immunology training, as almost 60% of North American programs had no training in this area at some point in time [6]. Duncan, and later Robin, used questionnaire surveys to explore the level of comfort of pediatric otolaryngologists with the basic genetics of sensorineural hearing loss, the relevant counseling and testing [7] and [8] identifying areas for potential improvement. And finally Shen et al surveyed United States of America otolaryngology residency programs regarding training in sleep medicine/sleep surgery [9].…”

Genetics educational needs in China: physicians’ experience and knowledge of genetic testing

“…Studies outside of China have shown that physicians' personal knowledge strongly influences their genetics practice. 7,8 However, no study about Chinese physicians' knowledge of genetics has been reported previously. We designed this survey to begin exploring Purpose: The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China.…”